TY  - GEN
AU  - Fernandes,M J
AU  - Hechtman,P
AU  - Boulay,B
AU  - Kaplan,F
TI  - A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts
SN  - 1018-4813
PY  - 1997///0930
KW  - Alleles
KW  - Cell Line
KW  - DNA Primers
KW  - Exons
KW  - Fibroblasts
KW  - cytology
KW  - G(M2) Ganglioside
KW  - metabolism
KW  - Hexosaminidase A
KW  - Humans
KW  - Mutation
KW  - Plasmids
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Single-Stranded Conformational
KW  - RNA
KW  - isolation & purification
KW  - RNA Splicing
KW  - genetics
KW  - RNA, Complementary
KW  - RNA, Messenger
KW  - analysis
KW  - Sequence Analysis, DNA
KW  - Tay-Sachs Disease
KW  - beta-N-Acetylhexosaminidases
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
ER  -